thr777 - An Overview
thr777 - An Overview
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The volume of variants in ClinVar which can be contained within just this gene, with a link to view the listing of variants.
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So this day can be different from your date of your “most recent submission” described at the best of this webpage. Aid Stick to NCBI
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03%). This variant has not been reported in the literature in people affected with GAA-similar disorders. ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively frequent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the impact of sequence changes on RNA splicing suggest that this variant might build or bolster a splice web page. In summary, the obtainable proof is now insufficient to find out the job of this variant in ailment. Hence, it has been categorized being a Variant of Unsure Importance. OK